Closing the gap between science and clinical practice: The thiopurine S-methyltransferase polymorphism moves forward

Pharmacogenetics

Volumn 14, Issue 7, 2004, Pages 395-396

  Krynetskiy, Eugene Y ^a   Evans, William E ^a  

^a ST JUDE CHILDREN S RESEARCH HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

6 MERCAPTOPURINE DERIVATIVE; AZATHIOPRINE; MERCAPTOPURINE; THIOPURINE METHYLTRANSFERASE; TIOGUANINE;

ALLELE; CAUCASIAN; CORRELATION ANALYSIS; ENZYME ACTIVITY; GENE IDENTIFICATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GERMANY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; PHENOTYPE; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; SHORT SURVEY; STRUCTURE ACTIVITY RELATION; WILD TYPE;

GENOTYPE; HUMANS; METHYLTRANSFERASES; PHARMACOGENETICS; POLYMORPHISM, GENETIC;

EID: 3242798799     PISSN: 0960314X     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.fpc.0000114753.08559.e9     Document Type: Short Survey

References (22)

1. Evans WE, McLeod HL. Pharmacogenomics - drug disposition, drug targets, and side effects. N Engl J Med 2003; 348:538-549.
2. Evans WE, Relling MV. Moving towards individualized medicine with pharmacogenomics. Nature 2004; 429:464-468.
3. Krynetski E, Evans WE. Drug methylation in cancer therapy: lessons from the TPMT polymorphism. Oncogene 2003; 22:7403-7413.
4. Abbott A. With your genes? Take one of these, three times a day. Nature 2003; 425:760-762.
5. Marshall E. First check my genome, doctor. Science 2003; 302:589.
6. Weinshilboum RM, Sladek SL. Mercaptopurine pharmacogenetics: monogenic inheritance of erythrocyte thiopurine methyltransferase activity. Am J Hum Genet 1980; 32:651-662.
7. Krynetski EY, Schuetz JD, Galpin AJ, Pui CH, Relling MV, Evans WE. A single point mutation leading to loss of catalytic activity in human thiopurine S-methyltransferase. Proc Natl Acad Sci USA 1995; 92:949-953.
8. Naughton MA, Battaglia E, O'Brien S, Walport MJ, Botto M. Identification of thiopurine methyltransferase (TPMT) polymorphisms cannot predict myelosuppression in systemic lupus erythematosus patients taking azathioprine. Rheumatology (Oxford) 1999; 38:640-644.
9. Langley PG, Underhill J, Tredger JM, Morris S, McFarlane IG. Thiopurine methyltransferase phenotype and genotype in relation to azathioprine therapy in autoimmune hepatitis. J Hepatol 2002; 37:441-447.
10. Cuffari C, Dassopoulos T, Turnbough L, Thompson RE, Bayless TM. Thiopurine methyltransferase activity influences clinical response to azathioprine in inflammatory bowel disease. Clin Gastroenterol Hepatol 2004; 2:410-417.
11. Weyer N, Kroplin T, Fricke L, Iven H. Human thiopurine S-methyltransferase activity in uremia and after renal transplantation. Eur J Clin Pharmacol 2001; 57:129-136.
12. McLeod HL, Krynetski EY, Wilimas JA, Evans WE. Higher activity of polymorphic thiopurine S-methyltransferase in erythrocytes from neonates compared to adults. Pharmacogenetics 1995; 5:281-286.
13. Evans WE, Hon YY, Bomgaars L, Coutre S, Holdsworth M, Janco R, et al. Preponderance of thiopurine S-methyltransferase deficiency and heterozygosity among patients intolerant to mercaptopurine or azathioprine. J Clin Oncol 2001; 19:2293-2301.
14. Rossi AM, Bianchi M, Guarnieri C, Barale R, Pacifici GM. Genotype-phenotype correlation for thiopurine S-methyltransferase in healthy Italian subjects. Eur J Clin Pharmacol 2001; 57:51-54.
15. Gearry RB, Barclay ML, Burt MJ, Collett JA, Chapman BA, Roberts RL, et al. Thiopurine S-methyltransferase (TPMT) genotype does not predict adverse drug reactions to thiopurine drugs in patients with inflammatory bowel disease. Aliment Pharmacol Ther 2003; 18:395-400.
16. Oh KT, Anis AH, Bae SC. Pharmacoeconomic analysis of thiopurine methyltransferase polymorphism screening by polymerase chain reaction for treatment with azathioprine in Korea. Rheumatology (Oxford) 2004; 43:156-163.
17. Corominas H, Baiget M. Clinical utility of thiopurine S-methyltransferase genotyping. Am J Pharmacogenomics 2004; 4:1-8.
18. Schaeffeler E, Fischer C, Brockmeier D, Wernet D, Moerike K, Eichelbaum M, et al. Comprehensive analysis of thiopurine S-methyltransferase phenotype-genotype correlation in a large population of German-Caucasians and identification of novel TPMT variants. Pharmacogenetics 2004; 14:407-417.
19. Kroplin T, Weyer N, Gutsche S, Iven H. Thiopurine S-methyltransferase activity in human erythrocytes: a new HPLC method using 6-thioguanine as substrate. Eur J Clin Pharmacol 1998; 54:265-271.
20. Schaeffeler E, Lang T, Zanger UM, Eichelbaum M, Schwab M. High-throughput genotyping of thiopurine S-methyltransferase by denaturing HPLC. Clin Chem 2001; 47:548-555.
21. Krynetski E, Evans WE. Drug methylation in cancer therapy: lessons from the TPMT polymorphism. Oncogene 2003; 22:7403-7413.
22. Yan L, Zhang S, Eiff B, Szumlanski CL, Powers M, O'Brien JF, et al. Thiopurine methyltransferase polymorphic tandem repeat: genotype-phenotype correlation analysis. Clin Pharmacol Ther 2000; 68:210-219.